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Volumn 38, Issue 7, 1997, Pages 1361-1373

Association of genetic variations in apolipoprotein B with hypercholesterolemia, coronary artery disease, and receptor binding of low density lipoproteins

Author keywords

Amish; Coronary artery disease; Genetic markers; Mutations; SSCP; Variations

Indexed keywords

APOLIPOPROTEIN B; ARGININE; CHOLESTEROL; CYSTEINE; DNA; GLUTAMINE; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

EID: 0030843226     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (48)

References (52)
  • 1
    • 0021524498 scopus 로고
    • How LDL receptors influence cholesterol and atherosclerosis
    • Brown, M. S., and J. L. Goldstein. 1984. How LDL receptors influence cholesterol and atherosclerosis. Sci. Am. 251: 58-66.
    • (1984) Sci. Am. , vol.251 , pp. 58-66
    • Brown, M.S.1    Goldstein, J.L.2
  • 2
    • 0022549920 scopus 로고
    • A receptor-mediated pathway for cholesterol homeostasis
    • Brown, M. S., and J. L. Goldstein. 1986. A receptor-mediated pathway for cholesterol homeostasis. Science. 232: 34-47.
    • (1986) Science , vol.232 , pp. 34-47
    • Brown, M.S.1    Goldstein, J.L.2
  • 3
    • 0002230202 scopus 로고
    • Familial hypercholesterolemia
    • C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill, New York
    • Goldstein, J. L., and M. S. Brown. 1989. Familial hypercholesterolemia. In The Metabolic Basis of Inherited Disease. 6th edition. C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill, New York. 1215-1250.
    • (1989) The Metabolic Basis of Inherited Disease. 6th Edition , pp. 1215-1250
    • Goldstein, J.L.1    Brown, M.S.2
  • 4
    • 0024559278 scopus 로고
    • Heritable allele-specific differences in amounts of apoB and low-density lipoproteins in plasma
    • Gavish, D., E. A. Brinton, and J. L. Breslow. 1989. Heritable allele-specific differences in amounts of apoB and low-density lipoproteins in plasma. Science. 244: 72-76.
    • (1989) Science , vol.244 , pp. 72-76
    • Gavish, D.1    Brinton, E.A.2    Breslow, J.L.3
  • 5
    • 0023223149 scopus 로고
    • Major locus inheritance of apolipoprotein B in Utah pedigrees
    • Hasstedt, S. J., L. Wu, and R. R. Williams. 1987. Major locus inheritance of apolipoprotein B in Utah pedigrees. Genet. Epidemiol. 4: 67-76.
    • (1987) Genet. Epidemiol. , vol.4 , pp. 67-76
    • Hasstedt, S.J.1    Wu, L.2    Williams, R.R.3
  • 6
    • 0023680189 scopus 로고
    • Sources of interindividual variation in the quantitative levels of apolipoprotein B in pedigrees ascertained through a lipid clinic
    • Pairitz, G., J. Davignon, H. Mailloux, and C. F. Sing. 1988. Sources of interindividual variation in the quantitative levels of apolipoprotein B in pedigrees ascertained through a lipid clinic. Am. J. Hum. Genet. 43: 311-321.
    • (1988) Am. J. Hum. Genet. , vol.43 , pp. 311-321
    • Pairitz, G.1    Davignon, J.2    Mailloux, H.3    Sing, C.F.4
  • 8
    • 0029009089 scopus 로고
    • Tel Aviv-Heidelberg Three-generation Offspring Study: Genetic determinants of apolipoprotein A-1 and apolipoprotein B
    • Livshits, G., M. Blettner, E. Graff, I. Hoting, J. Wahrendorf, D. Brunner, and G. Schettler. 1995. Tel Aviv-Heidelberg Three-generation Offspring Study: genetic determinants of apolipoprotein A-1 and apolipoprotein B. Am. J. Med. Genet. 57: 410-416.
    • (1995) Am. J. Med. Genet. , vol.57 , pp. 410-416
    • Livshits, G.1    Blettner, M.2    Graff, E.3    Hoting, I.4    Wahrendorf, J.5    Brunner, D.6    Schettler, G.7
  • 10
    • 0026752381 scopus 로고
    • Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels
    • Coresh, J., T. H. Beaty, P. O. Kwiterovich, Jr., and S. E. Antonarakis. 1992. Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels. Am. J. Hum. Genet. 50: 1038-1045.
    • (1992) Am. J. Hum. Genet. , vol.50 , pp. 1038-1045
    • Coresh, J.1    Beaty, T.H.2    Kwiterovich Jr., P.O.3    Antonarakis, S.E.4
  • 12
    • 0022993150 scopus 로고
    • DNA polymorphism at the apolipoprotein B locus is associated with lipoprotein level
    • Berg, K. 1986. DNA polymorphism at the apolipoprotein B locus is associated with lipoprotein level. Clin. Genet. 30: 515-520.
    • (1986) Clin. Genet. , vol.30 , pp. 515-520
    • Berg, K.1
  • 15
    • 0025194966 scopus 로고
    • Hypervariability in a minisatellite 3′ of the apolipoprotein B gene in patients with coronary heart disease compared with normal controls
    • Friedl, W., E. H. Ludwig, B. Paulweber, F. Sandhofer, and B. J. McCarthy. 1990. Hypervariability in a minisatellite 3′ of the apolipoprotein B gene in patients with coronary heart disease compared with normal controls. J. Lipid Res. 31: 659-665.
    • (1990) J. Lipid Res. , vol.31 , pp. 659-665
    • Friedl, W.1    Ludwig, E.H.2    Paulweber, B.3    Sandhofer, F.4    McCarthy, B.J.5
  • 16
    • 0025125891 scopus 로고
    • Association of DNA polymorphism at the apolipoprotein B gene locus with coronary heart disease and serum very low density lipoprotein levels
    • Paulweber, B., W. Friedl, F. Krempler, S. E. Humphries, and F. Sandhofer. 1990. Association of DNA polymorphism at the apolipoprotein B gene locus with coronary heart disease and serum very low density lipoprotein levels. Arteriosclerosis. 10: 17-24.
    • (1990) Arteriosclerosis , vol.10 , pp. 17-24
    • Paulweber, B.1    Friedl, W.2    Krempler, F.3    Humphries, S.E.4    Sandhofer, F.5
  • 17
    • 0026543905 scopus 로고
    • Lack of association between the apolipoprotein B gene 3′ hypervariable region alleles and coronary artery disease in Finnish patients with angiographically documented coronary artery disease
    • Heliö, T., A. Palotie, K. J. Tötterman, J. Ott, R. Kauppinen-Mäkelin, and M. J. Tikkanen. 1992. Lack of association between the apolipoprotein B gene 3′ hypervariable region alleles and coronary artery disease in Finnish patients with angiographically documented coronary artery disease. J. Intern. Med. 231: 49-57.
    • (1992) J. Intern. Med. , vol.231 , pp. 49-57
    • Heliö, T.1    Palotie, A.2    Tötterman, K.J.3    Ott, J.4    Kauppinen-Mäkelin, R.5    Tikkanen, M.J.6
  • 19
    • 0028107588 scopus 로고
    • Apolipoprotein polymorphisms fail to define risk of coronary artery disease. Results of a prospective, angiographically controlled study
    • Marshall, H. W., L. C. Morrison, L. L. Wu, J. L. Anderson, P. S. Corneli, D. M. Stauffer, A. Allen, L. A. Karagounis, and R. H. Ward. 1994. Apolipoprotein polymorphisms fail to define risk of coronary artery disease. Results of a prospective, angiographically controlled study. Circulation. 89: 567-577.
    • (1994) Circulation , vol.89 , pp. 567-577
    • Marshall, H.W.1    Morrison, L.C.2    Wu, L.L.3    Anderson, J.L.4    Corneli, P.S.5    Stauffer, D.M.6    Allen, A.7    Karagounis, L.A.8    Ward, R.H.9
  • 22
    • 0026779207 scopus 로고
    • Familial defective apolipoprotein B-100: A single mutation that causes hypercholesterolemia and premature coronary artery disease
    • Tybjærg-Hansen, A., and S. E. Humphries. 1992. Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease. Atherosclerosis. 96: 91-107.
    • (1992) Atherosclerosis , vol.96 , pp. 91-107
    • Tybjærg-Hansen, A.1    Humphries, S.E.2
  • 26
    • 0027026881 scopus 로고
    • Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
    • Hobbs, H. H., M. S. Brown, and J. L. Goldstein. 1992. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum. Mutat. 1: 445-466.
    • (1992) Hum. Mutat. , vol.1 , pp. 445-466
    • Hobbs, H.H.1    Brown, M.S.2    Goldstein, J.L.3
  • 27
    • 0021161854 scopus 로고
    • Genetic distances between the Utah Mormon and related populations
    • McLellan, T., L. B. Jorde, and M. H. Skolnick. 1984. Genetic distances between the Utah Mormon and related populations. Am. J. Hum. Genet. 36: 836-857.
    • (1984) Am. J. Hum. Genet. , vol.36 , pp. 836-857
    • McLellan, T.1    Jorde, L.B.2    Skolnick, M.H.3
  • 28
    • 0003544892 scopus 로고
    • U.S. Department of Health and Human Services, Public Health Service, National Institutes of Health (NIH Publ. No. 80-1527), Bethesda, MD
    • The Lipid Research Clinics. 1980. Population Studies Data Book. The Prevalence Study. Vol. 1. U.S. Department of Health and Human Services, Public Health Service, National Institutes of Health (NIH Publ. No. 80-1527), Bethesda, MD.
    • (1980) Population Studies Data Book. The Prevalence Study , vol.1
  • 29
    • 0026677391 scopus 로고
    • The use of linkage analysis and the Centre d'Etude Polymorphisme Humain (CEPH) panel of DNA in the study of the arginine vasopressin, oxytocin and prodynorphin gene loci
    • Summar, M. L. 1992. The use of linkage analysis and the Centre d'Etude Polymorphisme Humain (CEPH) panel of DNA in the study of the arginine vasopressin, oxytocin and prodynorphin gene loci. Prog. Brain Res. 93: 309-317.
    • (1992) Prog. Brain Res. , vol.93 , pp. 309-317
    • Summar, M.L.1
  • 30
    • 0024364222 scopus 로고
    • A rapid micro-scale procedure for determination of the total lipid profile
    • Wu, L. L., G. R. Warnick, J. T. Wu, R. R. Williams, and J-M. Lalouel. 1989. A rapid micro-scale procedure for determination of the total lipid profile. Clin. Chem. 35: 1486-1491.
    • (1989) Clin. Chem. , vol.35 , pp. 1486-1491
    • Wu, L.L.1    Warnick, G.R.2    Wu, J.T.3    Williams, R.R.4    Lalouel, J.-M.5
  • 32
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita, M., H. Iwahana, H. Kanazawa, K. Hayashi, and T. Sekiya. 1989. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA. 86: 2766-2770.
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 34
    • 0025714336 scopus 로고
    • Tetranucleotide repeat polymorphism in the apolipoprotein B gene
    • Zuliani, G., and H. H. Hobbs. 1990. Tetranucleotide repeat polymorphism in the apolipoprotein B gene. Nucleic Acids Res. 18: 4299.
    • (1990) Nucleic Acids Res. , vol.18 , pp. 4299
    • Zuliani, G.1    Hobbs, H.H.2
  • 35
    • 0025149589 scopus 로고
    • Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B-100
    • Ludwig, E. H., and B. J. McCarthy. 1990. Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B-100. Am. J. Hum. Genet. 47: 712-720.
    • (1990) Am. J. Hum. Genet. , vol.47 , pp. 712-720
    • Ludwig, E.H.1    McCarthy, B.J.2
  • 36
    • 0026062271 scopus 로고
    • Analysis of two different tandem repetitive elements within the human apolipoprotein B gene
    • Ludwig, E. H., K. Haubold, and B. J. McCarthy. 1991. Analysis of two different tandem repetitive elements within the human apolipoprotein B gene. J. Lipid Res. 32: 374-379.
    • (1991) J. Lipid Res. , vol.32 , pp. 374-379
    • Ludwig, E.H.1    Haubold, K.2    McCarthy, B.J.3
  • 37
    • 0024560744 scopus 로고
    • An ApaLI restriction site polymorphism is associated with the MB19 polymorphism in apolipoprotein B
    • Young, S. G., and S. T. Hubl. 1989. An ApaLI restriction site polymorphism is associated with the MB19 polymorphism in apolipoprotein B. J. Lipid Res. 30: 443-449.
    • (1989) J. Lipid Res. , vol.30 , pp. 443-449
    • Young, S.G.1    Hubl, S.T.2
  • 38
    • 33745026603 scopus 로고
    • The distribution and chemical composition of ultracentrifugaily separated lipoproteins in human serum
    • Havel, R. J., H. A. Eder, and J. H. Bragdon. 1955. The distribution and chemical composition of ultracentrifugaily separated lipoproteins in human serum. J. Clin. Invest. 34: 1345-1353.
    • (1955) J. Clin. Invest. , vol.34 , pp. 1345-1353
    • Havel, R.J.1    Eder, H.A.2    Bragdon, J.H.3
  • 40
    • 0037922059 scopus 로고
    • Lipoprotein-receptor interactions
    • C. A. Converse and E. R. Skinner, editors. Oxford University Press, Oxford
    • Arnold, K. S., T. L. Innerarity, R. E. Pitas, and R. W. Mahley. 1992. Lipoprotein-receptor interactions. In Lipoprotein Analysis. A Practical Approach. C. A. Converse and E. R. Skinner, editors. Oxford University Press, Oxford. 145-168.
    • (1992) Lipoprotein Analysis. A Practical Approach , pp. 145-168
    • Arnold, K.S.1    Innerarity, T.L.2    Pitas, R.E.3    Mahley, R.W.4
  • 42
    • 0028069822 scopus 로고
    • Isolation of allele-specific, receptor-binding-defective low density lipoproteins from familial defective apolipoprotein B-100 subjects
    • Arnold, K. S., M. E. Balestra, R. M. Krauss, L. K. Curtiss, S. G. Young, and T. L. Innerarity. 1994. Isolation of allele-specific, receptor-binding-defective low density lipoproteins from familial defective apolipoprotein B-100 subjects. J. Lipid Res. 35: 1469-1476.
    • (1994) J. Lipid Res. , vol.35 , pp. 1469-1476
    • Arnold, K.S.1    Balestra, M.E.2    Krauss, R.M.3    Curtiss, L.K.4    Young, S.G.5    Innerarity, T.L.6
  • 45
    • 0020702535 scopus 로고
    • Amish study. I: Affective disorders among the Amish, 1976-1980
    • Egeland, J. A., and A. M. Hostetter. 1983. Amish study. I: Affective disorders among the Amish, 1976-1980. Am. J. Psychiatry. 140: 56-61.
    • (1983) Am. J. Psychiatry , vol.140 , pp. 56-61
    • Egeland, J.A.1    Hostetter, A.M.2
  • 47
    • 0028218256 scopus 로고
    • Definition of a nonlinear conformational epitope for the apolipoprotein B-100-specific monoclonal antibody, MB47
    • Young, S. G., R. K. Koduri, R. K. Austin, D. J. Bonnet, R. S. Smith, and L. K. Curtiss. 1994. Definition of a nonlinear conformational epitope for the apolipoprotein B-100-specific monoclonal antibody, MB47. J. Lipid Res. 35: 399-407.
    • (1994) J. Lipid Res. , vol.35 , pp. 399-407
    • Young, S.G.1    Koduri, R.K.2    Austin, R.K.3    Bonnet, D.J.4    Smith, R.S.5    Curtiss, L.K.6
  • 48
    • 0025060263 scopus 로고
    • Use of bacterial expression cloning to localize the epitopes for a series of monoclonal antibodies against apolipoprotein B-100
    • Pease, R. J., R. W. Milne, W. K. Jessup, A. Law, P. Provost, J-C. Fruchart, R. T. Dean, Y. L. Marcel, and J. Scott. 1990. Use of bacterial expression cloning to localize the epitopes for a series of monoclonal antibodies against apolipoprotein B-100. J. Biol. Chem. 265: 553-568.
    • (1990) J. Biol. Chem. , vol.265 , pp. 553-568
    • Pease, R.J.1    Milne, R.W.2    Jessup, W.K.3    Law, A.4    Provost, P.5    Fruchart, J.-C.6    Dean, R.T.7    Marcel, Y.L.8    Scott, J.9
  • 49
    • 0029610490 scopus 로고
    • Purification of the apolipoprotein B-67-containing low density lipoprotein particle and its affinity for the low density lipoprotein receptor
    • Welty, F. K., L. Seman, and F. T. Yen. 1995. Purification of the apolipoprotein B-67-containing low density lipoprotein particle and its affinity for the low density lipoprotein receptor. J. Lipid Res. 36: 2622-2629.
    • (1995) J. Lipid Res. , vol.36 , pp. 2622-2629
    • Welty, F.K.1    Seman, L.2    Yen, F.T.3
  • 50
    • 0026697215 scopus 로고
    • ApoB-75, a truncation of apolipoprotein B associated with familial hypobetalipoproteinemia: Genetic and kinetic studies
    • Krul, E. S., K. G. Parhofer, P. H. R. Barrett, R. D. Wagner, and G. Schonfeld. 1992. ApoB-75, a truncation of apolipoprotein B associated with familial hypobetalipoproteinemia: genetic and kinetic studies. J. Lipid Res. 33: 1037-1050.
    • (1992) J. Lipid Res. , vol.33 , pp. 1037-1050
    • Krul, E.S.1    Parhofer, K.G.2    Barrett, P.H.R.3    Wagner, R.D.4    Schonfeld, G.5
  • 51
    • 0027193630 scopus 로고
    • The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
    • Sheffield, V. C., J. S. Beck, A. E. Kwitek, D. W. Sandstrom, and E. M. Stone. 1993. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics. 16: 325-332.
    • (1993) Genomics , vol.16 , pp. 325-332
    • Sheffield, V.C.1    Beck, J.S.2    Kwitek, A.E.3    Sandstrom, D.W.4    Stone, E.M.5
  • 52
    • 0027948212 scopus 로고
    • Screening for mutations in the exon 26 of the apolipoprotein B gene in hypercholesterolemic Finnish families by the single-strand conformation polymorphism method
    • Ilmonen, M., T. Heliö, T. Ebeling, K. Pyörälä, M. Uusitupa, A. Palotie, and M. J. Tikkanen. 1994. Screening for mutations in the exon 26 of the apolipoprotein B gene in hypercholesterolemic Finnish families by the single-strand conformation polymorphism method. Hum. Mutat. 4: 217-223.
    • (1994) Hum. Mutat. , vol.4 , pp. 217-223
    • Ilmonen, M.1    Heliö, T.2    Ebeling, T.3    Pyörälä, K.4    Uusitupa, M.5    Palotie, A.6    Tikkanen, M.J.7


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